Diagnosing a genetic disease in a donor‑conceived child: case report and discussion of the ethical, legal, and practical issues
Discovery exposes challenges in tracking genetic conditions across donor-conceived families
Lemaire, M., Noone, D., Waldman, L., Liu, K. E., Mulder, J., Cohen, S. R., Greenberg, R. A., & Chad, L. (2024). Diagnosing a genetic disease in a donor‑conceived child: case report and discussion of the ethical, legal, and practical issues. Pediatric Nephrology. https://doi.org/10.1007/s00467-024-06556-6
Geographic Region: Canada
Research Question: How should pediatricians navigate the ethical, legal, and practical challenges when diagnosing genetic diseases in donor-conceived children?
Research Methods: Case study involving multidisciplinary expert consultation and review and analysis of current practices and regulations in gamete donation
Sample: Two sets of twins from separate families. All children conceived through IVF using eggs from the same donor, who was reachable and cooperative. All children were diagnosed with X-linked nephrogenic diabetes insipidus (XNDI). Extended to donor's family (2 sons and father) after contact. Total affected individuals: 6 children and 1 adult.
Analysis Methods: Qualitative analysis of case outcomes and comparative analysis of international practices
Key Findings:
Both sets of twins shared the same AVPR2 genetic variant inherited from their egg donor. The condition was previously undiagnosed in the donor's family despite symptoms.
No clear guidelines exist for sharing genetic information between stakeholders in gamete donation
Current genetic screening practices may not detect all inheritable conditions
Lack of centralized donor registry complicates information sharing
Complex ethical and legal considerations exist around duty to warn and privacy
Limitations: Based on a single case series
Applications:
Donors
Should be encouraged to disclose their medical and family history to fertility programs, and previous donations to other programs
Should be encouraged to consent to future contact when updated medical information comes to light
Should ensure to keep contact information up to date with the gamete bank if recontact is desired
Fertility Programs (fertility clinic/donor banks/agencies)
Should use consistent donor/gamete screening and/or testing
Should discuss the relevance of future contact for medical reasons with all prospective donors
Should capture consent for recontact meaningfully and develop processes for the sharing and communication of relevant information to recipients and/or other programs
The creation of national donor registries could assist in outcome tracking, access to health information by donor-conceived people and their families, and donor recontact and should be considered.
Recipient Families
If a genetic condition is uncovered in an offspring, consideration to update the fertility program should be made, with consent expressed with respect to sharing this information with other at-risk families and programs.
Pediatric Clinicians/Genetic Care Providers
Clinicians should take a complete family history that includes whether children were born via gamete or embryo donation.
There should be a low index of suspicion of a possible inherited condition when a genetic diagnosis is identified in a donor-conceived child.
Become aware of the landscape of assisted reproduction and initiate a discussion with the patient/parents on the benefits and harms of disclosing a confirmed genetic diagnosis to the fertility clinic.
Funding Source: Not explicitly stated in the article.
Lead Author: Mathieu Lemaire is a staff physician and researcher in the Division of Nephrology at The Hospital for Sick Children in Toronto.
Regulatory Context:
The Canadian regulatory landscape for gamete donation is primarily governed by the Assisted Human Reproduction Act (AHRA).
The AHRA prohibits the purchase of gametes from donors. Only reimbursement of donation-related expenses is permitted.
Canada has only one domestic sperm bank, which provides approximately 20 donors per year. There are no domestic egg banks. As a result, most Canadians rely on international gamete banks, primarily from the United States.
Current Canadian regulations require genetic assessment of donors based on medical and family history. Health Canada regulations mandate screening for serious genetic diseases that are: Autosomal dominant, Autosomal recessive, and X-linked.
The Safety of Sperm and Ova Regulations require establishments distributing donor gametes to: Maintain up-to-date contact information for gamete recipients, Keep donor identification codes, and Track relevant medical information. However, there is no mandatory national or local donor registry.
In Ontario, the Personal Health Information Protection Act allows disclosure without consent only when there is: Reasonable grounds to believe disclosure is necessary, A significant risk of serious bodily harm to a person or group, and The possibility of eliminating or reducing that risk through disclosure.